Genetic disorder characterized by abnormal bone
development. Bowing of the bones in the arms and legs is characteristic.
Particular facial appearance includes hypertelorism, full cheeks, small
facial bones, and severe micrognathia. Other clinical features include a relatively
small chest cavity with irregular ribbon-like ribs, short clavicle, short
stature, and narrow shoulders. Pectus excavatum is often present.
Occasionally, dislocation of the hip occurs. May present hydronephrosis
caused by urinary retention caused by small ureters. There is some
suggestion that the entity is a form of the fronto-otopalatodigital
Osteodysplasty of Melnick and Needles; Melnick-Needles
First described in 1966 by John Welnick, an American
radiologist, and Carl F. Needles, an American physican.
Fewer than 50 persons described; seems to affect more
females than males.
Either an X-linked dominant or autosomal
sex-limited dominant trait. Otopalatodigital syndrome type II and MNS likely
result from mutations in the same gene. The difference in expression would
be explained by allelic heterogeneity in expression. Most patients are
female, but disease severity is greater in males.
Some cases suggest that this condition is a
generalized connective tissue disorder in which an increased content of
collagen is found.
Clinically and radiologically.
Considerable heterogeneity, short stature,
generalized bone dysplasia. Facial anomalies include a small face with
prominent eyes appearing hyperteloric; broad nasal bridge with anteverted
nares; micrognathia; sometimes cleft palate; full cheeks; and gingival
hypertrophy. Small chest with ribbon-like ribs, sometimes pectus excavatum;
bowing of long bones, mainly tibia and radius (metaphyseal flaring on
radiograph), and short upper limbs; vertebral anomalies leading to
scoliosis. In case of severe lung disease, secondary pulmonary hypertension.
Mitral and/or tricuspid valve prolapse, hydronephrosis, omphalocele,
hypoplastic kidneys, and urethral obstruction can be associated in some
Check airway for possible difficult
laryngoscopy and tracheal intubation. It is important to obtain an echocardiography to exclude associated cardiac problem
(mitral and/or tricuspid valve prolapse) or pulmonary hypertension.
Preoperative chest physiotherapy to prevent postoperative complications.
The anesthetic management of a patient
with mitral or tricuspid valve prolapse must be applied. In the presence of
a child with recurrent pulmonary infection, special care must be taken
because of increased risk for postoperative pulmonary complications. Be
prepared for difficult tracheal intubation.
No known pharmacological
Otopalatodigital (OPD) Syndrome Type I: Congenital association of
coarse facies, posterior cleft palate, conduction deafness, clinodactyly on
the fifth fingers, and broad big toes. The skull and limb are most often
Otopalatodigital (OPD) Syndrome Type II: Congenital association of
craniofacial and limb anomalies.
Fronto-Metaphyseal Dysplasia of Gorlin (FMD): Congenital syndrome involving
multiple abnormalities of the face and airway, poorly developed musculature,
and limited joint mobility.
Serpentine Fibula-Polycystic Kidney Syndrome: Probably X-linked
dominant inherited disorder with normal intelligence characterized by
S-shaped (serpentine-shaped) ...